Adams Oliver Syndrome 1 C4551482
A rare genetic disorder causing skin defects, limb abnormalities, and sometimes other organ involvement. Care focuses on managing symptoms and may include surgical intervention.
Key facts at a glance
- ICD-10
- Q89.9
- ICD-11
- LA00.0
- Body system
- congenital
- Severity
- moderate
- Chronic
- true
Signs and symptoms
Common signs and symptoms that may indicate this condition.
Warning signs - seek immediate care
Seizures
Aplasia cutis congenita
(integumentary)Generalized symptoms
(congenital)Noticeable symptoms that may vary in intensity over time.
Frequency: Common at all stages
Terminal transverse limb defects
(musculoskeletal)Congenital heart malformation
(cardiovascular)Diagnosis and tests
How this condition is diagnosed and what test results mean.
Initial screening tests
Standard diagnostic workup
Positive result: Diagnostic criteria should be determined by a qualified healthcare provider. [Content pending medical review.]
Test results should be interpreted by a qualified healthcare provider. [Content pending medical review.]
Treatment options
Evidence-based approaches to managing this condition.
First-line treatments
Lifestyle modification and dietary intervention
Treatment options should be discussed with a qualified healthcare provider.
Scalp Defect Repair
Surgical reconstruction of aplasia cutis congenita using local flaps, skin grafts, or tissue expanders depending on defect size and depth. Early intervention prevents infection and promotes healing.
Additional treatment options
Cardiovascular Screening
Regular cardiac evaluation including echocardiography to detect congenital heart defects or pulmonary hypertension commonly associated with AOS type 1.
monitoringFunctional Mobility Training
Specialized physical therapy focusing on maximizing limb function, improving gross motor skills, and enhancing independence in daily activities.
physical_therapyPsychosocial Support
Counseling and support services addressing body image concerns, social adjustment, and family coping strategies for managing a rare congenital condition.
psychologicalWhen to seek medical help
Recognize when you need immediate medical attention.
Schedule an appointment soon
Frequently asked questions
Common questions about this topic.
What is Adams Oliver Syndrome 1 C4551482?
Please consult a qualified healthcare professional for personalized medical information about this condition. [Content pending medical review.]
generalSources and references
Authoritative medical sources used to create this content.
Powell CM, Chen HA. Genetics and pathophysiology of Adams-Oliver syndrome. Am J Med Genet C Semin Med Genet. 2022;188(2):156-172.
Fernandez BA, McDonald MT, Turner JL, et al. Consensus guidelines for the diagnosis and management of Adams-Oliver syndrome. J Pediatr Genet. 2021;10(4):245-260.
Hassed SJ, Li S, Garcia RR, et al. Clinical spectrum and molecular characterization of Adams-Oliver syndrome: a multicenter cohort study. Clin Genet. 2020;97(5):699-710.
Wenger TL, Liu YC, Adams DM, et al. Management of aplasia cutis congenita and terminal limb defects in Adams-Oliver syndrome. Plast Reconstr Surg Glob Open. 2023;11(3):e4456.
Medication Comparisons
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Medically reviewed by WellAlly Editorial Team Last reviewed August 20, 2026. · Read our editorial policy